- Tytuł:
- The phenotype of the Gly94fsX222 PMP22 insertion.
- Autorzy:
- Źródło:
- Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2011 Jun; Vol. 16 (2), pp. 113-8.
- Typ publikacji:
- Journal Article
- MeSH Terms:
-
Arthrogryposis/*genetics
Arthrogryposis/*physiopathology
Charcot-Marie-Tooth Disease/*genetics
Charcot-Marie-Tooth Disease/*physiopathology
Hereditary Sensory and Motor Neuropathy/*genetics
Hereditary Sensory and Motor Neuropathy/*physiopathology
Myelin Proteins/*genetics
Adolescent ; Adult ; Arthrogryposis/pathology ; Charcot-Marie-Tooth Disease/pathology ; Child ; Electrophysiology ; Female ; Hereditary Sensory and Motor Neuropathy/pathology ; Humans ; Male ; Mutation, Missense ; Phenotype ; Point Mutation ; Young Adult - SCR Disease Name:
- Tomaculous neuropathy
Czasopismo naukowe